Blood cancer scientists developing powerful new tools to improve diagnosis and treatment for patients

Australian scientists will use new technology to improve the diagnosis and treatment of blood cancers, which affect 1.24 million people globally, including 720,000 who die from leukemia, lymphoma or myeloma each year.

The Centre for Cancer Biology (CCB), an alliance between the University of South Australia and SA Pathology, has been awarded $1 million as part of a $2.5 million national genomic project led by the Walter and Eliza Hall Institute.

An international team of researchers will use new technologies to cross reference genomic data and speed up the diagnosis and treatment of blood, ovarian and breast cancers, thanks to the Medical Research Future Fund.

Section Head of the CCB Molecular Pathology Research Laboratory, Associate Professor Chris Hahn, says Adelaide researchers will focus on blood cancers, developing powerful new functional experiments to identify which genetic variants are harmful and which are benign.

“In Australia, about 17,000 people are diagnosed with blood cancers every year (1.24 million worldwide) and we think that about 20 per cent of those carry a genetically inherited component. While we can efficiently and accurately identify thousands of genetic mutations or variants, what we don’t know is whether they cause cancer or not. This project will help us do that,” Assoc Prof Hahn says.

“There’s a term called ‘diagnostic odyssey’ where people can go for years not knowing what is causing their disease. By using state-of-the-art technologies, we will be able to measure the effect of all possible mutations within a gene and educate clinicians how to interpret that data to improve patient treatment.

“It will speed up the diagnosis, save families a lot of stress, and the potential to save the medical system millions of dollars.”

Assoc Prof Hahn says by correctly classifying genetic mutations which cause cancer, clinicians will be able to provide drug-specific targeted treatments where available and better patient management including genetic counselling for the family.

“Some blood cancers are notoriously difficult to treat. In cases where there aren’t good drugs or where standard treatments have failed, haematologists may need to progress to bone marrow transplants.

“Knowing the genetic cause means they can then make an informed decision about whether family members are suitable donors, or whether they are also carriers of the predisposing mutation.

“Ultimately, we would like to be able to prevent diseases such as blood cancers. By accurately identifying whether individuals and families have a genetic predisposition, we may be able to correct that mutation down the track with gene therapy or gene editing approaches.”

A video explaining the research is available at: https://youtu.be/HXH2BydY2oc

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